Variant ID: 1-55524201-T-C

NM_174936.3(PCSK9):c.1384T>C;(p.Ser462Pro)

This variant was identified in 4 publications




Publications:


PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: S462P
PMID: 29748367
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: PCSK9: S462P
PMID: 29259136
View BVdb publication page



Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology
R Schulz, KD Schl├╝ter, U Laufs
Publication Date: 2015-03

Variant appearance in text: PCSK9: S462P
PMID: 25600226
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The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: S462P
PMID: 23105118
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1384T>C p.Ser462Pro missense_variant 9/12 -
ENST00000490692.1 n.2108T>C - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.732T>C p.Gly244= synonymous_variant 7/10 -
NM_174936.4 c.1384T>C p.Ser462Pro missense_variant 9/12 -
NR_110451.1 n.991T>C - non_coding_transcript_exon_variant 7/10 -